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Items: 1 to 20 of 107

1.

The genetic architecture of aniridia and Gillespie syndrome.

Hall HN, Williamson KA, FitzPatrick DR.

Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Review.

2.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR.

PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.

3.

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

Glaser T, Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL.

Genomics. 1994 Jan 1;19(1):145-8.

PMID:
8188215
4.

PAX6-Related Aniridia.

Moosajee M, Hingorani M, Moore AT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 May 20 [updated 2018 Oct 18].

5.

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.

Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.

6.

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM.

Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21.

PMID:
29169895
7.

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.

De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H.

BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5.

8.

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D.

Ophthalmic Genet. 2006 Dec;27(4):145-9.

PMID:
17148041
9.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.

Boese EA, Tollefson MR, Schnieders MJ, Darbro BW, Alward WLM, Fingert JH.

Curr Eye Res. 2020 Jan;45(1):91-96. doi: 10.1080/02713683.2019.1649704. Epub 2019 Aug 14.

PMID:
31361967
10.

[Gillespie syndrome: an uncommon presentation of congenital aniridia].

Defreyn A, Maugery J, Chabrier S, Coullet J.

J Fr Ophtalmol. 2007 Jan;30(1):e1. French.

PMID:
17287663
11.

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.

Dubey SK, Mahalaxmi N, Vijayalakshmi P, Sundaresan P.

Mol Vis. 2015 Jan 27;21:88-97. eCollection 2015.

12.

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA.

Clin Genet. 2017 Dec;92(6):639-644. doi: 10.1111/cge.13019. Epub 2017 Aug 2.

PMID:
28321846
13.

Aniridia.

Hingorani M, Hanson I, van Heyningen V.

Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Review.

14.

WAGR syndrome--a case report.

Mahale A, Poornima V, Shrestha M.

Nepal Med Coll J. 2007 Jun;9(2):138-40.

PMID:
17899969
15.

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR.

Am J Med Genet A. 2018 Jun;176(6):1427-1431. doi: 10.1002/ajmg.a.38704. Epub 2018 Apr 16.

PMID:
29663667
16.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.

Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21.

17.

[Present limitations of molecular biological diagnostics in Gillespie syndrome].

Kieslich M, Vanselow K, Wildhardt G, Gebhardt B, Weis R, Böhles H.

Klin Padiatr. 2001 Mar-Apr;213(2):47-9. German.

PMID:
11305191
18.

[Two neonates with congenital aniridia: the necessity of genetic investigation].

van Os E, Niemarkt HJ, Verreussel MJ, Cruysberg JR, Bok LA, Spruijt L.

Ned Tijdschr Geneeskd. 2008 Mar 8;152(10):569-73. Dutch.

PMID:
18402324
19.

[Congenital aniridia in children].

Bremond-Gignac D.

Rev Prat. 2019 Jan;69(1):67-70. Review. French.

PMID:
30983291
20.

Mutation in the PAX6 gene in twenty patients with aniridia.

Chao LY, Huff V, Strong LC, Saunders GF.

Hum Mutat. 2000;15(4):332-9.

PMID:
10737978

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